|
|
| Sl. No. |
Reference |
Journal |
Publication Year |
Allele |
Population |
Sub Population |
Gene |
SNP |
Amino Acid Change |
Trait |
Discovery OR (95% CI) |
Replication 1 OR (95% CI) |
Replication 2 OR (95% CI) |
p-Value |
Chromosome |
Variant location |
Variant Type |
| 51 |
Durso et al. |
PLOS One |
2014 |
C>T |
South American |
Brazilian |
SLC45A2 |
rs26722 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
PLOS One |
|
C>A,G |
South American |
Brazilian |
SLC45A2 |
rs16891982 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
PLOS One |
|
C>T |
South American |
Brazilian |
TYRP1 |
rs1408799 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
NA |
NA |
|
|
PLOS One |
|
C>A,G,T |
South American |
Brazilian |
TYRP1 |
rs2733832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Exonic |
NA |
|
|
PLOS One |
|
A>C |
South American |
Brazilian |
TYR |
rs1042602 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
NA |
|
|
PLOS One |
|
A>G |
South American |
Brazilian |
TYR |
rs1126809 |
Arg402Gln |
Skin color |
NA |
NA |
NA |
NA |
11 |
Exonic |
Missence |
|
|
PLOS One |
|
A>G |
South American |
Brazilian |
KITLG |
rs642742 |
NA |
Skin color |
NA |
NA |
NA |
NA |
12 |
NA |
NA |
|
|
PLOS One |
|
G>T |
South American |
Brazilian |
SLC24A4 |
rs12896399 |
NA |
Skin color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
PLOS One |
|
A>G |
South American |
Brazilian |
SLC24A5 |
rs1426654 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
NA |
|
|
PLOS One |
|
G>A |
South American |
Brazilian |
OCA2 |
rs1800401 |
Arg305Trp |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
PLOS One |
|
C>T |
South American |
Brazilian |
OCA2 |
rs1800407 |
Arg419Gln |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
PLOS One |
|
C>G |
South American |
Brazilian |
SLC24A5 |
rs2555364 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
PLOS One |
|
A>G |
South American |
Brazilian |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
PLOS One |
|
A>G |
South American |
Brazilian |
ASIP |
rs1015362 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
NA |
NA |
|
|
PLOS One |
|
A>G |
South American |
Brazilian |
ASIP |
rs6058017 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
| 52 |
Guenther et al. |
Nature Genetics |
2014 |
T>A,C,G |
European |
Netherland, Iceland |
KITLG |
rs12821256 |
NA |
Hair color |
NA |
NA |
NA |
NA |
12 |
NA |
NA |
| 53 |
Dembinski et al. |
Forensic Science International: Genetics |
2014 |
G>A |
North American |
United state |
HERC2 |
rs12913832 |
NA |
Eye color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>T |
North American |
United state |
OCA2 |
rs1800407 |
Arg419Gln |
Eye color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
Forensic Science International: Genetics |
|
G>T |
North American |
United state |
SLC24A4 |
rs12896399 |
NA |
Eye color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
G>C |
North American |
United state |
SLC45A2 |
rs16891982 |
NA |
Eye color |
NA |
NA |
NA |
NA |
5 |
Exonic |
Missence |
|
|
Forensic Science International: Genetics |
|
G>A |
North American |
United state |
TYR |
rs1393350 |
NA |
Eye color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Forensic Science International: Genetics |
|
C>T |
North American |
United state |
IRF4 |
rs12203592 |
NA |
Eye color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
| 54 |
Liu et al. |
Human Genetics |
2015 |
T>G |
European |
European |
SLC45A2 |
rs183671 |
NA |
Skin color |
NA |
NA |
NA |
NA |
5 |
Intronic |
NA |
|
|
Human Genetics |
|
C>T |
European |
European |
IRF4 |
rs12203592 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A,C,T |
European |
European |
BNC2 |
rs10756819 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A |
European |
European |
TYR |
rs1393350 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
Intronic |
NA |
|
|
Human Genetics |
|
A>G |
European |
European |
SLC24A4 |
rs17128291 |
NA |
Skin color |
NA |
NA |
NA |
NA |
14 |
Intronic |
NA |
|
|
Human Genetics |
|
G>A |
European |
European |
HERC2 |
rs12913832 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
G>T |
European |
European |
SLC24A5 |
rs2924567 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
Human Genetics |
|
T>C |
European |
European |
MC1R |
rs4268748 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Intronic |
NA |
|
|
Human Genetics |
|
A>G |
European |
European |
RALY |
rs6059655 |
NA |
Skin color |
NA |
NA |
NA |
NA |
20 |
Intronic |
NA |
| 55 |
Eaton et al. |
American Journal of Human Biology |
2015 |
T>A,C |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
OCA2 |
rs1800414 |
His615Arg |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
American Journal of Human Biology |
|
G>A |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
OCA2 |
rs74653330 |
Ala481Th |
Skin color |
NA |
NA |
NA |
NA |
15 |
Exonic |
Missence |
|
|
American Journal of Human Biology |
|
T>C |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
OCA2 |
rs7497270 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
C>T |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
LYST |
rs3754234 |
NA |
Skin color |
NA |
NA |
NA |
NA |
1 |
Exonic |
NA |
|
|
American Journal of Human Biology |
|
T>C |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
LYST |
rs7522053 |
NA |
Skin color |
NA |
NA |
NA |
NA |
1 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
A>G |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
LYST |
rs4659610 |
NA |
Skin color |
NA |
NA |
NA |
NA |
1 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
C>T |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
MLPH |
rs2292881 |
NA |
Skin color |
NA |
NA |
NA |
NA |
2 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
A>G |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
OPRM1 |
rs1799971 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
C>T |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
OPRM1 |
rs6917661 |
NA |
Skin color |
NA |
NA |
NA |
NA |
6 |
3 prime UTR |
NA |
|
|
American Journal of Human Biology |
|
A>G |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
EGFR |
rs2227983 |
NA |
Skin color |
NA |
NA |
NA |
NA |
7 |
Exonic |
Missence |
|
|
American Journal of Human Biology |
|
C>A |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
BNC2 |
rs9406647 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
A>G |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
BNC2 |
rs3739714 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Exonic |
Missence |
|
|
American Journal of Human Biology |
|
C>T |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
BNC2 |
rs10756778 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
G>A |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
BNC2 |
rs10962591 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
A>G |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
TH |
rs4930046 |
NA |
Skin color |
NA |
NA |
NA |
NA |
11 |
NA |
NA |
|
|
American Journal of Human Biology |
|
T>C |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
TRPM1 |
rs3809578 |
NA |
Skin color |
NA |
NA |
NA |
NA |
15 |
Intronic |
NA |
|
|
American Journal of Human Biology |
|
T>C |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
MC1R |
rs33932559 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
NA |
|
|
American Journal of Human Biology |
|
G>A |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
MC1R |
rs885479 |
NA |
Skin color |
NA |
NA |
NA |
NA |
16 |
Exonic |
Missence |
|
|
American Journal of Human Biology |
|
G>A |
Asian |
Chinese, Korea, Taiwan, Japan, Vietnam |
BNC2 |
rs10962591 |
NA |
Skin color |
NA |
NA |
NA |
NA |
9 |
Intronic |
NA |